| Autor: |
Saki Noda, Kohei Aoyama, Yuto Kondo, Jun Okamura, Atsushi Suzuki, Naoya Yamaguchi, Aya Yoshida, Yoshishige Miyake |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2054-345X |
| DOI: |
10.1038/s41439-021-00173-7 |
| Popis: |
Abstract Pseudohypoaldosteronism type1A (PHA1A) is the renal form of pseudohypoaldosteronism with autosomal dominant inheritance. PHA1A is caused by haploinsufficiency of the mineralocorticoid receptor, which is encoded by NR3C2. We encountered an infant who was diagnosed with PHA1A due to hyponatremia, hyperkalemia, and poor weight gain in the neonatal period. She carried a novel heterozygous mutation (NM_000901.5: c.1757 + 1 G > C) in the splice donor site of IVS-2 in NR3C2. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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